Paula and Bobby
Parents of Lillie
What is 3q29 Microdeletion?
3q29 Microdeletion is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Microscopically visible 3qter deletions have been reported to be characterised by mental retardation, growth delay, hypotonia and ear abnormalities, and early lethality (3/5 patients died before 2 years) (Chitayat et al., (1996; Baynam et al., 2006).
The first microdeletion was reported by Rossi et al., (2001) in an infant with moderate retardation, facial dysmorphism (not further specified), horseshoe kidney, and hypospadias. A series of 6 patients was described by Willatt et al., (2005) which showed a wide variation in symptomatology. Most common features were mild to moderate mental retardation, long face, high nasal bridge, short philtrum, full lower lip, and long and tapering fingers. One had a cleft lip and palate. The size of the deletion was 1.5Mb. Another patient with clefting was reported by Petrin et al., (2011). Baynam et al., (2006) reported another patient, who had in addition to the above symptoms a nasal voice, six lumbar vertebrae, contractures of knees and ankles, and a cerebral sigmoid venous thrombosis at the age of 4 years.
Do note the father and son reported by Li et al., (2009), both with a deletion, because father's intelligence was within the normal range and his 6 month old child was developmentally also normal. Father had pulmonary stenosis and a PDA and the son was dysmorphic, but no pictures were shown.
Four members of a family were reported by Clayton-Smith et al., (2010). Learning difficulties were mild and one had a severe depressive disorder in adulthood. Facially they were similar (Long face, long nose with high bridge and broad tip, short philtrum). Autism, bipolar disease (with suicidal thoughts) and aggressive behaviour were features in 2 patients reported by Quintero-Rivera et al., (2010). Twins reported by Seo et al., (2010) had grey hair (no pictures shown). Autism and psychotic behaviour of early onset were features in the case described by Sagar et al., (2013). He had severe coreo-athetosis, tics and stereopathy.
Glassford et al. (2016) characterized the range of phenotypic manifestations associated with 3q29 deletion syndrome via Internet-based survey from 44 patients. 28% of the participants presented with neuropsychiatric phenotypes, including anxiety disorder, panic attacks, depression, bipolar disorder, and schizophrenia. 26% were diagnosed with autism. Other novel findings included a high prevalence of feeding problems in infancy and reduced weight at birth. Congenital heart defect was present in 26% of the patients and gastrointestinal problems in 68% (gastroesophageal reflux, chronic constipation, dysphagia). 66% of the individuals had dental problems.
* This information is courtesy of the L M D.
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What gene changes cause 3q29 Microdeletion?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Dominant - In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.
Microdeletion - Microdeletion inheritance occurs when there is a deletion of several genes on a chromosome. The specific chromosome on which the deletions occur will determine the syndrome they cause.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
OMIM Number - 609425 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of 3q29 Microdeletion?
The typical symptoms of the syndrome are:
How does someone get tested for 3q29 Microdeletion?
The initial testing for 3q29 Microdeletion can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
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